Genomic variant #0000563323

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.7749716A>C
DNA change (hg38) -
Published as KDM6B(NM_001080424.1):c.457-2A>C (p.?), KDM6B(NM_001080424.2):c.457-2A>C
ISCN -
DB-ID KDM6B_000003 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Leiden




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KDM6B NM_001080424.1 -?/. - c.457-2A>C likely benign r.spl? p.?